Wilke, Andreas and Steverding, Dietmar (2009) Ochronosis as an unusual cause of a valvular defect: a case report. Journal of Medical Case Reports, 3. ISSN 1752-1947
Full text not available from this repository. (Request a copy)Abstract
INTRODUCTION: Alkaptonuria (also known as ochronosis) is a genetic disorder characterised by the accumulation of homogentisic acid deposits in connective tissue. In rare cases, ochronosis can cause valvular heart disease. CASE PRESENTATION: We present the case of a 68-year-old Caucasian man with alkaptonuria-associated degenerative valvular defects with aortic, mitral and tricuspid valve insufficiency. The patient did not have any cardiac complaints and was referred to our clinic for evaluation of a conspicuous new heart murmur. CONCLUSION: This case report shows that early diagnosis of cardiovascular ochronosis gives us the opportunity to use conservative treatment to slow down the progression of valvular dysfunction.
Item Type: | Article |
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Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
UEA Research Groups: | Faculty of Medicine and Health Sciences > Research Groups > Gastroenterology and Gut Biology |
Depositing User: | EPrints Services |
Date Deposited: | 25 Nov 2010 11:13 |
Last Modified: | 23 Oct 2022 01:46 |
URI: | https://ueaeprints.uea.ac.uk/id/eprint/15093 |
DOI: | 10.1186/1752-1947-3-9302 |
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